Varaico: Literature-Extracted Genetic Variants

Gene:AQP7
Variant:p.F247L

AQP7

108 papers

RefSeq Summary

This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cel...

Pfam Domains

MIPaa 1–215UCSCMajor intrinsic protein
MIPaa 27–272UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 7

HGNC Previous Symbol

AQP7L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001170.3
p.F247L
c.741C>G
Surrounding Variants
1 paper
NM_001170.3
p.F247L
c.741C>A
1 paper
NM_001170.3
p.F247L
c.739T>C
7 papers
NM_001170.3
p.G241G
c.723T>C
4 papers
NM_001170.3
p.R234S
c.700C>A
1 paper
NM_001170.3
p.P233L
c.698C>T
1 paper
NM_001170.3
p.P233T
c.697C>A
7 papers
NM_001318156.2
p.L174P
c.521T>C
NM_001170.3
p.L231P
c.692T>C
3 papers
NM_001170.3
p.P227P
c.681G>A
4 papers
NM_001170.3
p.N226N
c.678C>T
6 papers
NM_001170.3
p.M219I
c.657G>T
6 papers
NM_001170.3
p.M219I
c.657G>C
7 papers
NM_001170.3
p.M219I
c.657G>A
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